LEURIDAN CAVALCANTE TORRES
Projetos de Pesquisa
Unidades Organizacionais
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
3 resultados
Resultados de Busca
Agora exibindo 1 - 3 de 3
- Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region(2012) SOARES, Diogo Cordeiro de Queiroz; DUTRA, Roberta Lelis; QUAIO, Caio Robledo D'angioli Costa; MELARAGNO, Maria Isabel; KULIKOWSKI, Leslie Domenici; TORRES, Leuridan Cavalcante; KIM, Chong Ae
- NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene(2014) TORRES, Leuridan Cavalcante; SOARES, Diogo Cordeiro de Queiroz; KULIKOWSKI, Leslie Domenici; FRANCO, Jose Francisco; KIM, Chong AeThe mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. Whereas the lysosome is essential to the functioning of the immune system, some authors suggest that the MPS patients have abnormalities in the immune system similar to the patients with primary immunodeficiency. In this study, we evaluated 8 male MPS type II patients of the same family with novel mutation in the IDS gene. We found in this MPS family a quantitative deficiency of NK and B cells with normal values of IgG, IgM and IgA serum antibodies and normal response to polysaccharide antigens. Interestingly, abnormalities found in these patients were not observed in other MPS patients, suggesting that the type of mutation found in the IDS gene can be implicated in the immunodeficiency.
conferenceObject Lymphoproliferative Disorder with Hypogammaglobulinemia: an Unusual Presentation of 22q11.2 Deletion Syndrome(2017) SOARES, Diogo C.; NUNEZ, Evelyn Cristina; SANTOS, Cristiane J.; PASTORINO, Antonio C.; DANTAS, Anelisa G.; TORRES, Leuridan C.; ZANARDO, Evelin A.; KULIKOWSKI, Leslie D.; MELARAGNO, Maria Isabel; CARNEIRO-SAMPAIO, Magda M. S.; KIM, Chong Ae